ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2935C>T (p.Arg979Cys) (rs80356970)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000048019 SCV000076032 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130686 SCV000185573 likely benign Hereditary cancer-predisposing syndrome 2019-08-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
GeneDx RCV000433032 SCV000512297 likely benign not specified 2017-08-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Health, Inc RCV000130686 SCV000688407 likely benign Hereditary cancer-predisposing syndrome 2016-09-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433032 SCV000918750 uncertain significance not specified 2017-12-11 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.2935C>T (p.Arg979Cys) variant involves the alteration of a non-conserved nucleotide and 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). However, these predictions have yet to be functionally assessed. This variant was found in 6/246104 control chromosomes (gnomAD) at a frequency of 0.0000244, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). Multiple publications have cited the variant in affected individuals, however, with limited informatin (ie, lack of co-occurrence and cosegregation data). However, one reputable database that classifies the variant as "UV" reports the variant to co-occur with a pathogenic BRCA2 variant, c.771_775delTCAAA (p.Asn257LysfsX17 - scored DV by LCA), therefore, suggesting a potential benign impact. Multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
Sharing Clinical Reports Project (SCRP) RCV000077531 SCV000109332 likely benign Breast-ovarian cancer, familial 1 2012-02-09 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077531 SCV000144588 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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